A link has been postulated between regressive autism and the spectrum of epileptic encephalopathic conditions including Landau-Kleffner syndrome with the suggestion that subclinical epilepsy may be causative of regression in autism. This is an audit of investigation using sleep electroencephalograms (EEG) in 64 children (56 males, 8 females; mean age 35.6mo [SD 8.2mo]; range 18–48mo) with autism. No child had a history suggestive of epilepsy. Thirty-nine of the children presented with regressive autism and 20 of the participants showed some epileptiform abnormality. There was no significant difference in epileptiform activities in those who showed regression compared with those who did not. No child showed electrical status epilepticus with continuous spike-wave discharges in slow sleep. There was no evidence that these cases of autism with and without regression were associated with epileptic encephalopathy. The significance of epileptiform discharges without epilepsy in the sleep EEG in autism remains unknown.

Scoliosis affects 75 to 90% of patients with non-ambulant Duchenne muscular dystrophy (DMD). Spinal surgery is the treatment of choice but the indication varies among centres. Some offer surgery to all non-ambulant patients, irrespective of scoliosis severity. Early surgery has the advantage of targeting DMD when cardiorespiratory function is preserved, but not all patients develop scoliosis. We report our 10-year experience of scoliosis management in 123 patients with DMD who were at least 17 years old at the time of the study. Scoliosis was absent in 10%, and mild, non-progressive (at least 30°) in 13% of patients. Another 13% had moderate scoliosis (31–50°) and were managed conservatively. Surgery was considered in 57% (70/123) of patients with scoliosis greater than 50° and eventually performed in 35%. The remaining patients either refused surgery (9%) or were unfit because of cardiorespiratory compromise (13%). In a further 7%, scoliosis (greater than 50°), first noted after 14 years of age, was progressing slowly and surgery was not performed. At 17 years there was no difference in survival, respiratory impairment, or sitting comfort among patients managed conservatively or with surgery. One-third (44/123) of our patients were managed satisfactorily without receiving spinal surgery. We provide insight into the natural history of scoliosis in DMD that should help families and clinicians with decision-making when surgery is considered.

A study of 37 individuals with phenylketonuria (PKU; 17 females and 20 males, mean age 9y 9mo (standard deviation [SD] 5y 3mo), range 2y 8mo to 19y 4mo; and 35 individuals with hyperphenylalaninaemia (HPA; 20 females, 15 males, mean age 7y 10mo [SD 3y 2mo], range 2y 8mo to 17y 3mo) compared with 29 healthy controls (14 females and 15 males, mean age 9y 8mo [SD 4y 9mo], range 2y 6mo to 18y 10mo) was performed. The aim was to assess cognitive function in persons with HPA and to investigate the relation between cognitive function in PKU and the metabolic control of patients. A wide variety of neuropsychological tests was employed. Those with PKU showed lower values in intelligence and in visuo-spatial, fine motor, executive, and attention functions when compared with a control population. Plasma phenylalanine values from the first 6 years of life were negatively associated with intelligence and other cognitive functions. Executive function scores were significantly lower when comparing HPA patients with the control group. It was concluded that individuals with PKU under dietary treatment may present slightly decreased cognitive function scores when compared with control individuals, while those with HPA have scores mostly similar to those of controls, except for executive function tests. Good metabolic control of PKU seems necessary to prevent cognitive function impairments, especially during the first 6 years of life.

The objective of this study was to explore the behaviour, including sleep patterns, of children with neurofibromatosis type 1 (NF1). For this purpose we designed a cross-sectional descriptive survey conducted by postal enquiry with telephone follow-up. Simonds and Parraga's sleep questionnaire and the Strength and Difficulties Questionnaire were used to screen sleep patterns and behaviours respectively. Information was obtained for 64 children (39 male, mean age 10y 7mo, SD 4y 1mo, range 3 to 18y; 57% response rate). There were increased numbers of children with NF1 achieving scores in the borderline and abnormal range for ratings of peer problems (p<0.001), hyperactivity (p<0.001), emotional symptoms (p<0.001), and conduct disorder (p<0.05). Total difficulties score was also high (p<0.001) in the NF1 group. Only one group of sleep problems, parasomnias (in particular sleepwalking and sleep terrors), had a higher occurrence (p[les ]0.05) in the NF1 group than in the general population. Within the NF1 group, conduct problems (p[les ]0.05), hyperactivity (p[les ]0.01), emotional problems (p[les ]0.01), and the total difficulties score (p[les ]0.01) were all significantly higher in children with frequent sleep disturbance. We conclude that NF1 is associated with sleep and behavioural problems in a high proportion of children. Psychiatric conditions, e.g. attention-deficit–hyperactivity disorder, may be under-diagnosed on a large scale in children with NF1, and the use of simple screening tools in clinical settings may prove beneficial.

In 1937, Orton described children with motor coordination difficulties as ‘clumsy’, a term still used today. Other terms used to describe these difficulties include developmental dyspraxia, awkwardness, motor learning problems, and most recently, developmental coordination disorder (DCD). DCD is defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as a ‘marked impairment in the development of motor coordination [that]... interferes with academic achievement or activities of daily living’. The impaired coordination is present in the absence of a known medical condition such as cerebral palsy or muscular dystrophy. The heterogeneity of the motor and cognitive abilities of children included in this classification, and the numerous terms employed to describe them, have hindered systematic accumulation of knowledge about DCD.

The heightened risk of epilepsy in cerebral palsy (CP) was recognized by Freud more than 100 years ago. His descriptions of the characteristics of the seizures indicate his appreciation of their essentially symptomatic nature. Much more recently, the importance of epilepsy as an adverse factor for cognitive function in children with hemiplegic CP has been highlighted. The possibility that subclinical seizure discharges may add to cognitive problems requires particular attention in any child whose abilities may be already impaired secondary to structural brain abnormalities. Nevertheless, it is important to recognize that the motor difficulties, and any intellectual disabilities, as well as complicating seizures, are likely to stem from the same underlying pathology.

First-onset tics during stimulant treatment of attention-deficit–hyperactivity disorder (ADHD) are clinically relevant and remain a matter of scientific debate. Because there are limited clinical trials analyzing the risk of first-onset tics in stimulant-treated ADHD, a comprehensive evaluation is required for evidence-based clinical recommendations. An analysis of studies with high methodological quality (i.e. double-blind placebo-controlled) on first-onset tics during stimulant treatment of ADHD revealed that there seems to be no elevated risk of first-onset tics in children undergoing this treatment. Although a close temporal relationship might be seen in a few patients, the role of treatment duration, dose of stimulant, genetic vulnerability, and developmental aspects need to be further explored to clarify possible pathophysiological mechanisms of tic emergence under stimulant treatment. The results of high quality studies, in addition to specialized studies with methodological limitations, suggest that stimulants are the criterion standard for the safe and successful treatment of ADHD.

We describe the clinical presentation, course, and treatment response of a 14-year-old boy with catatonic stupor. This patient, with a preexisting diagnosis of autism, displayed mutism, akinesia, and an extreme level of rigidity, waxy flexibility, posturing, including the psychological pillow, facial grimacing, and other involuntary movements of his upper extremities. In addition he had symptoms suggestive of a depressive disorder as well as some non-specific psychotic symptoms. Intravenous injection of sodium amytal failed to resolve any motor symptoms, although he showed a good response to the zolpidem test. A course of electroconvulsive therapy (ECT) caused dramatic and sustained relief of catatonic stupor without a change in the symptoms of autism. The presentation of catatonia in autism and the use of ECT in children are discussed, and the available literature reviewed. This is the first description of the use of ECT in the treatment of catatonia coinciding with autism and we confirm its efficacy.

Group A Streptococcus can induce autoimmune disease in humans with particular involvement of the heart, joints, and brain. The spectrum of post-streptococcal disease of the central nervous system (CNS) has been widened recently and includes movement disorders (chorea, tics, dystonia, and Parkinsonism), psychiatric disorders (particularly emotional disorders), and associated sleep disorders. Neuroimaging and pathological studies indicate that the most vulnerable brain region is the basal ganglia. The immunopathogenesis of the disease is incompletely defined, and although there is some support for autoantibody-mediated disease, several conflicting studies cast doubt on the autoantibody hypothesis. It has been speculated that post-streptococcal autoimmunity has a role in common neuropsychiatric disease but the evidence is conflicting and routine screening of patients with Tourette syndrome and obsessive–compulsive disorder for post-streptococcal autoimmune abnormalities is not be recommended at present. However, post-streptococcal disorders of the CNS remain a useful model of neuropsychiatric disease, which may improve our understanding of abnormal movements and behaviours in children.

Between June 1993 and December 1996, 276 term newborn infants with encephalopathy and 564 randomly selected term controls were enrolled in a population-based study of moderate and severe term newborn encephalopathy (NE) in Western Australia. During comprehensive neurobehavioural and cognitive follow-up of all patients and controls at 3 years and again at 5 years of age we found an unexpected but strong association between NE and autism spectrum disorders (ASDs). A diagnosis of ASD by age 5 years was reached using criteria according of the Diagnostic Statistical Manual, 4th edition. Linking records to the Western Australian Disability Services Commission Register ensured that no child in the study with ASD was missed. By age 5 years, 37 (13.4%) infants with NE and one (0.2%) control had died. Among the 239 survivors of NE, 12 (5%) were diagnosed with an ASD. Of these, 10 (4.2%) met the full criteria for autism, one had pervasive developmental disorder–not otherwise specified, and one had Asperger syndrome. Among the 563 surviving controls, five (0.8%) were diagnosed with an ASD: three with autism, one with autism/possible Asperger syndrome, and one with Asperger syndrome. Compared with the controls, the children who had experienced NE were 5.9 times (95% confidence interval 2.0–16.9) more likely to have been diagnosed with an ASD.

Damage to the occipital cortex in children can result in many complex disorders of cognitive visual function. A series of clinical questions, developed from the specific problems of a cohort of children with cortical visual impairment, was asked of the parents of 200 children with no history of cerebral pathology, aged 5 to 12 years. One hundred and ninety-two parents gave reliable consistent responses. The results show a progressive improvement in performance with age, culminating in few 11- and 12-year olds having frequent problems, apart from 8% having frequent difficulty with orientation in new surroundings and 2% having problems with simultaneous perception tasks. The parents of 52 children (aged 5 to 17 years) with shunted hydrocephalus were then asked the same set of questions. Evidence of cognitive visual problems was identified in 27 of these children of whom 16 manifested multiple difficulties. The disabilities identified by our study comprised problems with: shape recognition, simultaneous perception, perception of movement, colour perception, orientation, object recognition, and face recognition. The range, nature, and combinations of these disorders are presented in this paper.

The aim of the study was to determine whether pediatric patients with cerebral palsy (CP; 24.3% hemiplegic, 30.4% diplegic, 38.5% quadriplegic) can self-report their health-related quality of life (HRQOL) with the Pediatric Quality of Life Inventory Version 4.0 (PedsQL 4.0) Generic Core Scales. The PedsQL was administered to 148 families (84 males, 64 females; mean 10y, SD 3y 9mo, range 5 to 18y) recruited from a children's hospital clinic and state medical therapy clinics. Sixty-nine children (47%) were able to self-report. Children with CP self-reported a significantly lower HRQOL (mean 65.9) than healthy children (mean 83.8). Children with CP self-reported a similar HRQOL to pediatric cancer patients receiving treatment (mean 68.9). Children diagnosed with quadriplegia (mean 49.4) self-reported more impaired HRQOL than children with diplegia (mean 69.1) and hemiplegia (mean 72.4). Parent–child concordance was lowest for emotional functioning. Providers and parents should obtain the children's HRQOL perceptions whenever possible.

A neuropsychological investigation of the association between specific language impairment (SLI) and hyperactivity was conducted on four groups of 6-year-old children. The groups, each consisting of five boys and five girls, were: children with SLI alone, hyperactivity alone, both SLI and hyperactivity, and neither disorder (controls). Cognitive functioning was examined using selected non-verbal tests from the Cambridge Neuropsychological Test Automated Battery. SLI was not associated with significantly reduced performance on any of the neuropsychological measures. However, hyperactivity was associated with deficits on a test of attentional set shifting previously demonstrated to be sensitive to frontostriatal dysfunction. Further, hyperactive children showed significantly reduced spatial spans on a test of spatial working memory thought to measure parietal lobe functioning. There were no substantial differences between the groups on tests of frontal lobe function except for reduced performance on a task of attention in the hyperactive group. There were no significant interactions between hyperactivity and SLI on any of the neuropsychological measures. The pattern of neuropsychological deficits shown by children with attention-deficit–hyperactivity disorder (ADHD) suggests relatively specific problems in inhibitory control of attentional selection. This cognitive deficit implicates brain areas including basal ganglia and ventro-lateral prefrontal cortical areas in ADHD, thus providing evidence for disruption of frontostriatal functional loops. SLI and hyperactivity can occur as comorbid syndromes or symptom complexes and this should be noted when interpreting results of tests measuring cognitive performance. The findings suggest that these two groups of disorders have different cognitive correlates.

Development of literacy skills was studied in six children (one male, five females) with severe speech impairments and cerebral palsy (CP). These skills were related to intellectual development, phonological abilities, and short-term memory. Three of the children were diagnosed with dystonia, and three with diplegia. They had no, or severely restricted, independent mobility (Gross Motor Function Classification System Level IV for four children and Level V for two), and severe fine motor problems, including difficulty with pointing. As they had no intelligible speech, the Bliss system was the primary communication mode. Assessments were made at approximately 6, 9, and 12 years of age. The results revealed that the children had difficulties acquiring literacy skills, although intellectual level and phonological ability predicted otherwise. Positive development during the first 3 years was followed by an arrest. A conspicuous decrease in IQ points was also found. Thus, phonological ability does not seem to have the same predictive power for literacy development in children with severe speech impairments and CP as in typically developing children. Further studies are needed to clarify the role of phonological abilities, working memory, and strategies used in literacy acquisition in these children. Such studies might also clarify the importance of articulatory abilities in early literacy acquisition.

This study examines the executive function (EF) skills of extremely-low-birthweight (ELBW) children at school compared with their peers. Thirty children with ELBW and 50 control children (both with a mean age of 62±4 months) were administered tests of EF including the Tower of Hanoi task, Finger Sequencing task, and Tapping Test. Children with ELBW, including those who scored more than 1 SD below the mean on the Peabody Picture Vocabulary Test – Revised, scored significantly lower than their peers on all executive tasks. There was limited correlation between EF and previous general quotient index scores obtained at routine assessment using the McCarthy Scales of General Ability at 4 years of age for the children with ELBW. Results suggest that children with ELBW are at risk for deficits in ‘executive’ behaviours including planning, sequencing, and inhibition which may have implications for later learning.

The aim of this study was to examine children with myelomeningocele (spina bifida) who were investigated according to the level of neurosegmental lesion and to determine the number who walked and their average age at commencement/cessation of walking. The data have been collected since 1978 at the Royal Children's Hospital, Melbourne during annual evaluations of patients with spina bifida and high-level paralysis. After screening for established criteria and assigning to a neurosegmental lesion level, 173 children were examined for their ability to walk, with or without aids, in a community setting. Thirty-five children had lesions at the thoracic level, and seven walked at a mean age of 4 years 6 months. Three children with a lesion at the thoracic level ceased walking at a mean age of 7 years 6 months. Ten children had lesions at the high-lumbar level (L1/2), and five walked at a mean age of 5 years 2 months. Three children who had lesions at the high-lumbar level ceased walking at a mean age of 6 years 11 months. Fifteen children had lesions at the mid-lumbar level (L3) and nine walked at a mean age of 5 years. Three ceased walking at a mean age of 7 years. Forty-five children had lesions at the low-lumbar level (L4/5) and 38 walked at a mean age of 3 years 10 months. Five ceased walking at a mean age of 9 years 1 month. Sixty-eight children had lesions at the sacral level; all of whom walked at an average age of 2 years 2 months. None had ceased walking by the end of the study period. Delay in achieving ambulation can be expected in all children with spina bifida, including those with low neurosegmental level lesions. Furthermore, some children with high lesion level, given the opportunity, might be expected to ambulate effectively in the community but may cease walking after 3 to 4 years of this activity, which is earlier than previously recorded.

Following the introduction of combination antiretroviral therapy, children vertically infected with the human immunodeficiency virus (HIV-1) living in the developed world are surviving into adult life. This paper reviews the neurodevelopmental outcomes of 62 consecutively-presenting children with HIV-1 infection diagnosed before 3 years of age (32 males, 30 females; median age at presentation 6mo). Neurological and developmental data are presented with immunological and virological responses to antiretroviral therapy. Fourteen children (22%) had abnormal neurological signs and 25 (40%) demonstrated significant developmental delay on standardized developmental assessments. Children presenting with more severe HIV-1 disease and immune compromise had significantly more abnormal neurological signs and developmental delays than children presenting with milder HIV-1 symptomatology. Immune function, control of HIV-1 viral replication, and growth parameters improved with antiretroviral therapy (median age at last follow-up 7y 3mo); however, abnormal neurological signs and significant gross motor difficulties persisted.

Nocturnal enuresis is a genetically determined maturational disorder of the central nervous system. Lack of arousal and an inhibition deficit of the micturition reflex have been found as the main dysfunctions leading to wetting during sleep. Both are mediated by nuclei in the brainstem. Therefore, evoked potentials (brainstem auditory evoked potential [BAEP], visual evoked potential [VEP], event-related late acoustic-evoked potential [P300]), and the prepulse inhibition (PPI) of the startle reflex were assessed to further evaluate the brainstem deficit compared with cortical function. Thirty-seven children with nocturnal enuresis, aged 8 years to 14 years 8 months (mean age 10y 7mo [SD 1y 10mo]; 27 males, 10 females) were compared with 40 controls (mean age 10y 7mo [SD 1y 6mo]; 17 males, 23 females). Left interpeak latencies I–III and I–V of the BAEP were increased in children with nocturnal enuresis. VEP measures did not differ between patients and controls. However, children with a positive family history of enuresis showed a shorter latency towards N75 and P100 than children without such a family history. P300 and PPI measures did not differ. We conclude that this strongly supports the postulation of a maturational deficit of the brainstem in nocturnal enuretic children. The increased interpeak latencies I–III and I–V of the BAEP support the hypothesis of an arousal deficit mediated by delayed maturation of brainstem function. Differences in VEP latencies might point towards functional cortical differences in children with a family history of nocturnal enuresis.

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with confirmed diagnoses of tuberous sclerosis and significant sleep disorder were recruited. We employed three outcome measures: total sleep time, time to sleep onset, and number of awakenings. Patients treated with melatonin had a small but clinically significant improvement in total sleep time (mean improvement 0.55 hours, P<0.05). They also tended to have an improvement in sleep-onset time but this did not reach statistical significance. Melatonin, in this trial, had no discernible effect on sleep fragmentation. We conclude that melatonin does have a beneficial effect in prolonging the total sleep time of patients with tuberous sclerosis and sleep disorder and that further trials are necessary to investigate the issues of optimal dosage, tolerance, and possible interactions with other medications.

The development of postural adjustments during reaching movements was longitudinally studied in seven infants with cerebral palsy (CP) between 4 and 18 months of age. Five infants developed spastic hemiplegia, one spastic tetraplegia, and one spastic tetraplegia with athetosis. Each assessment consisted of a simultaneous recording of video data and surface EMGs of arm, neck, trunk, and leg muscles during reaching in various lying and sitting positions. The basic organization of postural adjustments of the children developing spastic CP was intact. Their main problem was a deficient capacity to modulate the postural adjustments to task-specific constraints – a deficit which was attributed to a combination of an impaired motor coordination and deficits in sensory integration. The child with spastic-dyskinetic CP showed distinct abnormalities in the basic organization of postural adjustments.